A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674335



Internal ID9940440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47382679..47382693hg38UCSC Ensembl
Outerchr6:47382536..47382832hg38UCSC Ensembl
Innerchr6:47350429..47350415hg19UCSC Ensembl
Outerchr6:47350272..47350568hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6109683, essv5627250, essv6232245, essv5550886, essv5839204, essv5920500, essv6108826, essv6130378, essv5411330, essv6188983, essv5844261, essv5999441, essv6052138, essv6358761, essv6257560, essv6307384, essv5963301, essv5528277, essv6141403, essv6266754, essv5477217, essv5770794, essv6580306, essv6271548, essv6439746, essv6259652, essv5600936, essv6390614, essv6126749, essv5506276, essv6021965, essv6501632, essv6530998, essv6484535, essv5645348, essv5984296, essv6072501, essv6278102, essv5770800, essv6576800, essv6568749, essv5647506, essv6277884, essv5855739, essv5433038, essv6476034, essv6021196, essv6550617, essv5428091, essv6180764, essv5921427, essv6032919, essv6250169, essv6234095, essv5956193, essv5715845, essv6351324, essv6415280, essv6586825, essv5548165, essv6241591, essv6341392, essv6537633, essv5722725, essv6312746, essv6357419, essv5427023, essv5947696, essv5645365, essv5869251, essv6365570, essv5773243, essv6492311, essv6025405, essv5635697, essv5967183, essv5660518, essv5836812, essv5403718, essv6448819, essv6545616, essv6563442, essv5774022, essv5609574, essv5629616, essv6168534, essv5959135, essv6313580, essv6282835, essv5476853
SamplesHG01441, HG00650, HG00442, HG01356, NA19397, NA18561, HG00315, NA18603, HG00699, NA18606, HG00449, HG00654, NA18602, HG00693, NA19396, NA19381, NA19005, HG00689, HG00448, HG00330, NA18547, HG00346, NA18582, NA18571, HG01083, HG01365, NA18611, HG00512, HG00139, HG01080, HG00683, HG00422, HG00427, HG00338, NA18557, HG00530, HG00464, HG00543, HG00313, NA18544, NA18605, NA18613, HG00629, HG00443, HG00557, HG00428, NA19391, HG00436, HG00584, HG00533, HG00583, HG00500, NA18579, HG00692, NA18537, HG00690, HG00531, HG00684, NA18532, HG01101, HG00613, HG00525, HG00463, NA18570, NA18576, NA18542, NA18543, NA18564, HG00473, HG00607, HG01108, HG00418, HG00620, NA18501, HG00707, HG00513, HG00421, NA18609, HG00698, HG01377, HG00472, HG01378, NA18612, NA18622, HG01437, HG01061, HG00437, HG00581, NA18577, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674335
Frequency
Sample Size1151
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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